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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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HSPB1

Alias

CMT2F; HEL-S-102; HMN2B; HS.76067; HSP27; HSP28; Hsp25; SRP27

Associated disorders

The HSPB1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) (MedGen UID: 335784) and distal hereditary motor neuropathy 2B (HMN2B) (MedGen UID: 382017).

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HSPB1

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Invitae tests that include this gene:

HSPB1 is a rare cause of CMT and distal hereditary motor neuropathy, and the percentage of cases of these conditions attributed to pathogenic variants identified in HSPB1 is unknown.

The gene HSPB1 encodes the heat shock 27-KD protein 1, which is expressed in response to environmental stress. It is involved in proteasome-mediated degradation, and pathogenic variants in HSPB1 have been reported to lead to degeneration of neurons in cell culture.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
HSPB1 NM_001540.3